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Menke-Hennekam syndrome 2

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Description

Menke-Hennekam syndrome-2 (MKHK2) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, and hearing impairment are also frequently seen. Although mutations in the same gene cause Rubinstein-Taybi syndrome-2 (RSTS2; 613684), patients with MKHK1 do not resemble the striking phenotype of RSTS2. For a discussion of genetic heterogeneity of Menke-Hennekam syndrome, see MKHK1 (618332).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

11

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Genes

External Links

  • OMIM

    618333

  • Orphanet
  • HPO
  • Medgen

    C5193035

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